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FARIMPD
Chr 1ARATPase Na+/K+ transporting subunit alpha 2
Also known as: DEE98, FARIMPD, FHM2, MHP2
The protein is the alpha-2 subunit of Na+/K+-ATPase, an integral membrane protein that establishes and maintains sodium and potassium ion gradients across cell membranes, which are essential for nerve and muscle electrical excitability, osmoregulation, and transport of various molecules. Mutations cause a severe autosomal recessive disorder characterized by fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies. This represents a distinct and more severe phenotype than the familial hemiplegic migraine and alternating hemiplegia of childhood typically associated with other ATP1A2 mutations.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FARIMPD?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FARIMPD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
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